Information for patients, their families and helpers
The facts: History
In 1946 Professor Refsum of Oslo University in Norway described two families with impaired vision, due to retinitis pigmentosa, and an unsteady gait. Professor Refsum suggested that this association was not a chance finding but the manifestation of a single disease. This disease, which he called Heredopathia Atactica Polyneuritiformis, is now usually referred to as adult Refsum's disease (ARD).
At about the same time scientists in New Zealand identified the fatty acid, phytanic acid, in milk fat.
In 1963 Klenk and Kahlke discovered that patients with adult Refsum's disease had a raised phytanic acid level in their blood. The finding of a specific chemical abnormality in these patients has been of importance in the understanding of the disease and in devising a rational treatment.
Page last updated 26 June 2006